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The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.
G Ital Dermatol Venereol. 2009 Oct; 144(5):613-5.GI

Abstract

Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots.

Authors+Show Affiliations

Department of Pediatrics, University Hospital, Al kadhimiyia, Baghdad, Iraq. almosawiAJ@yahoo.comNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19834439

Citation

Al Mosawi, A J., and L Fewin. "The First Case of Niikawa-Kuroki Syndrome in Kazakhstan Associated With Café Au Lait Spots." Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia, vol. 144, no. 5, 2009, pp. 613-5.
Al Mosawi AJ, Fewin L. The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots. G Ital Dermatol Venereol. 2009;144(5):613-5.
Al Mosawi, A. J., & Fewin, L. (2009). The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots. Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia, 144(5), 613-5.
Al Mosawi AJ, Fewin L. The First Case of Niikawa-Kuroki Syndrome in Kazakhstan Associated With Café Au Lait Spots. G Ital Dermatol Venereol. 2009;144(5):613-5. PubMed PMID: 19834439.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots. AU - Al Mosawi,A J, AU - Fewin,L, PY - 2009/10/17/entrez PY - 2009/10/17/pubmed PY - 2010/3/2/medline SP - 613 EP - 5 JF - Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia JO - G Ital Dermatol Venereol VL - 144 IS - 5 N2 - Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots. SN - 0392-0488 UR - https://www.unboundmedicine.com/medline/citation/19834439/The_first_case_of_Niikawa_Kuroki_syndrome_in_Kazakhstan_associated_with_café_au_lait_spots_ L2 - http://www.minervamedica.it/index2.t?show=R23Y2009N05A0613 DB - PRIME DP - Unbound Medicine ER -